Tuesday, October 16, 2007

hereditary spherocytosis update

So we went to Stanford children's hospital last week with Fionn. First a blood draw and then after to see Dr Bertil Glader to see re blood work and also finally they were going to look at his blood under a microscope which is really how they tell if you have hereditary spherocytosis. That and osmotic fragility test which is putting red blood cells in water solution as spherecyote cells being wrong shape will burst as they don't have the normal rigid cell structure.

I have been asking for the specialists to look at his blood under microscope since he was born. The blood tests of his bilirubin, Reti and haemoglobin are only indicators of symptoms of hereditary spherocytosis. Only way to tell for sure is to look under microscope. Seems in US they resist doing that for God knows what reason. (they do 100 newborn tests like sickle cell but not the one hes more likely to have!)

So resident was in first with med student and said blood work was all normal range which was great. Dr Glader then came in after looking at his cells and said unfortunately he saw some spherecyotes. Only a few but means likely Fionn has hereditary spherocytosis.

What it means is that in hereditary spherocytosis - or HS the red blood cells can be shaped wrong and instead of donuts you can have rugby or American football type shaped cells (or also shaped like the baby s head Stuart from family guy cartoon ).

The cells still work pretty fine but the spleen kills them off way too early thinking they are dead. So enlarged spleen and blocked up gall bladder from gunk from killed too early red blood cells. Then you can get anemic as red blood cells can be made quick enough or jaundice as you're liver cant handle the increasing bilirubin.

So was kinda bummed that the baby has hereditary spherocytosis. There's a 50% chance of inheriting it so looks like he got it from me. Back in 2 months to confirm but really unlike;y any other reason for spherecyote cells.

Good news is looks like mild case so may do well. also compared to my day much better treatment. If they need to remove his spleen like they did with us they do keyhole so doesn't have cut from top stomach all way down.

Also they are doing partial spleenectomy now and the clinical trial they have going on is interesting as sometimes spleen grows back like liver does if partial removed. However the spleens that grew back don't seem to attack the hereditary spherocytosis red cells any more so that's just fascinating! Clinical trials being done at Lucille Packard hospital at Stanford so Fionn might benefit. Keeping part spleen also means less complications re spleenectomy afterwards. If you have you spleen out means you have no immunity to flu's or pneumonia. And not in a can make you kinda sick. In a kinda can kill you way.. So hopefully wont need spleen out at all and maybe in 2 moths when we go back no spherecyotes but I know that's really unlikely

So we were bummed but I know could be much worse. Seems mild case so knock wood so far so good. Hes healthy (congested last two days but change weather here) and putting on weight great and hitting all his milestones . Also having HS myself means that lived through it so I know what its about versus some disease we don't know. Myself and the doctor discussed the protocols that are in vogue right now from the British journal of hematology. Its the one I give to doctors to explain what hereditary spherocytosis is. Its supposed to be common as in one in every 5000 but apart from my family I haven't met any one else with it apart from some nice folks I met via their blogs who blogged about it as well. I think it must be undiagnosed as folks who may have stomach pains are told gall bladder issues or anemia and the source of problem not found.

Baby is doing great though. Now 12 half pounds and 8 weeks old. Wow that went fast. I couldn't tell you what I did most days as they all seem to blur together but loving it

How could you not love a kid who giggles and whole face lights up when you blow on his head (I'd say hair but that's stretching it as still quite bald...) Being that happy over something I can do so easily - that's just magic

5 Comments:

P.S. So insensitive of me...I'm bummed for you and Fionn...but if he wasn't all out jaundice at birth I'm betting he has the milder form. My dad had this form and never had anything bother him. I've been mostly good up till recently. But having a knowledgable Mommy will be his best asset. (((HUGS)))

Hi, I found you blog via a google search of HS. I have it as do all three of my children. (so much for the 50/50 chance! lol) My oldest had a pretty bad case, and needed a splenectomy when he was only five, my other two are milder and haven't needed one yet. Middle child is 19 and only had one problem when he was 10 and needed a transfusion. My daughter is 7 and so far, so good!

I had a splenectomy when I was 10. As far as immunity goes, I'm actually very healthy as far as that goes, especially considering I work as a respiratory therapist and have daily exposure to pneumonia and the flu.

That study where the partial spleen doesn't attack the cells is fascinating and I'm going to do some research on that.

I hope your daughter does as well as my children have. I share your frustration about the medical community and how they don't listen. Grrr...That's story for another day. :-)

I wish you the best. Basically everyone in my family on my mother's side has spherocytosis. Most of us have had our spleens out after complications in the teen years. I still have my spleen at 44 as does one of my uncle's (at 70ish). No real complications due to do spleen remove that I know of, but I'd prefer to keep mine unless if becomes warranted. I do suffer from chronic anemia, but mild. Again, good luck, having diagnosed the disease, you and yours should be fie.